Showing entry for Abetalipoproteinemia


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD000006
Disease NameAbetalipoproteinemia
Disease CUI IdC0000744
MeSH Codes C16   C18  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Semantic TypeDisease or Syndrome
Human Phenotype Ontology Id HP:0001939  
Human Phenotype Ontology TermAbnormality of metabolism/homeostasis
Disease Ontology Id DOID:0014667   DOID:630  
Disease Ontology Class Namedisease of metabolism; genetic disease
Disorder Network disorder-protein-compound-food associations
The  disease-related  target proteins
Proteins
Uniport Id BXGT Id Protein Name Gene Status Protein Class
Uniport Id BXGT Id Protein name Gene Status Protein class
O00443 BXGT003920 Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha 5286 reviewed Kinase
O14788 BXGT004100 Tumor necrosis factor ligand superfamily member 11 8600 reviewed Signaling
O15554 BXGT004182 Intermediate conductance calcium-activated potassium channel protein 4 3783 reviewed Ion channel
O60674 BXGT004892 Tyrosine-protein kinase JAK2 3717 reviewed Kinase
O75365 BXGT005115 Protein tyrosine phosphatase type IVA 3 11156 reviewed
P00519 BXGT005570 Tyrosine-protein kinase ABL1 25 reviewed Kinase
P01130 BXGT005735 Low-density lipoprotein receptor 3949 reviewed
P01236 BXGT005744 Prolactin 5617 reviewed Signaling
P02649 BXGT005909 Apolipoprotein E 348 reviewed
P05164 BXGT006333 Myeloperoxidase 4353 reviewed Enzyme
P06748 BXGT006497 Nucleophosmin 4869 reviewed Chaperone
P07148 BXGT006559 Fatty acid-binding protein, liver 2168 reviewed
P07438 BXGT006625 Metallothionein-1B 4490 reviewed
P09382 BXGT006882 Galectin-1 3956 reviewed Signaling
P11274 BXGT007681 Breakpoint cluster region protein 613 reviewed Enzyme modulator
P13500 BXGT007916 C-C motif chemokine 2 6347 reviewed Signaling
P18031 BXGT008369 Tyrosine-protein phosphatase non-receptor type 1 5770 reviewed
P22681 BXGT008795 E3 ubiquitin-protein ligase CBL 867 reviewed Enzyme
P24298 BXGT008960 Alanine aminotransferase 1 2875 reviewed Enzyme
P27708 BXGT009202 CAD protein 790 reviewed Enzyme
P41212 BXGT010235 Transcription factor ETV6 2120 reviewed Transcription factor
P42684 BXGT010331 Tyrosine-protein kinase ABL2 27 reviewed Kinase
P54764 BXGT011078 Ephrin type-A receptor 4 2043 reviewed Kinase
P55157 BXGT011108 Microsomal triglyceride transfer protein large subunit 4547 reviewed Transporter
P60709 BXGT011322 Actin, cytoplasmic 1 60 reviewed Cellular structure
Q02763 BXGT012667 Angiopoietin-1 receptor 7010 reviewed Kinase
Q03164 BXGT012700 Histone-lysine N-methyltransferase 2A 4297 reviewed
Q13233 BXGT013330 Mitogen-activated protein kinase kinase kinase 1 4214 reviewed Kinase
Q13478 BXGT013362 Interleukin-18 receptor 1 8809 reviewed Receptor
Q16665 BXGT013653 Hypoxia-inducible factor 1-alpha 3091 reviewed Transcription factor
Q8NBP7 BXGT018541 Proprotein convertase subtilisin/kexin type 9 255738 reviewed Enzyme
Q9BZ23 BXGT020194 Pantothenate kinase 2, mitochondrial 80025 reviewed Kinase
Q9NPH5 BXGT021159 NADPH oxidase 4 50507 reviewed Enzyme
Q9UM73 BXGT021773 ALK tyrosine kinase receptor 238 reviewed Kinase
P20809 BXGT025043 Interleukin-11 3589 reviewed
The  disease-related  compounds
Compounds
BXGC Id Compound Name Structure Molecular Weight Number of targets?Number of times compound connecting the disease , higher numbers indicate the compound is more associated with the disease
The  disease-related  foods
Foods
BXGF Id Food Name Scientific Name Food Group Number of compounds in food?Number of compounds in food that connecting disease, higher numbers indicate the more compounds in food are more associated with the dusease